Variant report

Variant	rs7110919
Chromosome Location	chr11:120175620-120175621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:120175338-120175625	K562	blood:	n/a	chr11:120175461-120175470
2	SRF	chr11:120175125-120175704	HCT-116	colon:	n/a	chr11:120175404-120175422 chr11:120175408-120175419 chr11:120175404-120175418 chr11:120175402-120175419 chr11:120175407-120175420
3	MYC	chr11:120175334-120175659	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:120175228-120175629	Hela-S3	cervix:	n/a	chr11:120175431-120175440
5	FOS	chr11:120175275-120175648	MCF10A-Er-Src	breast:	n/a	chr11:120175461-120175470
6	FOS	chr11:120175285-120175641	MCF10A-Er-Src	breast:	n/a	chr11:120175461-120175470
7	MYC	chr11:120175271-120175723	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF384	chr11:120175435-120175838	GM12878	blood:	n/a	n/a
9	SRF	chr11:120175146-120175681	MCF-7	breast:	n/a	chr11:120175404-120175422 chr11:120175408-120175419 chr11:120175404-120175418 chr11:120175402-120175419 chr11:120175407-120175420
10	FOS	chr11:120175274-120175649	MCF10A-Er-Src	breast:	n/a	chr11:120175461-120175470
11	ZNF384	chr11:120175594-120175794	K562	blood:	n/a	n/a
12	FOS	chr11:120175268-120175656	MCF10A-Er-Src	breast:	n/a	chr11:120175461-120175470
13	POLR2A	chr11:120175125-120175721	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr11:120175304-120175633	T-47D	breast:	n/a	n/a
15	SRF	chr11:120175002-120175803	HCT-116	colon:	n/a	chr11:120175404-120175422 chr11:120175408-120175419 chr11:120175404-120175418 chr11:120175402-120175419 chr11:120175407-120175420
16	SRF	chr11:120175160-120175672	ECC-1	luminal epithelium:	n/a	chr11:120175404-120175422 chr11:120175408-120175419 chr11:120175404-120175418 chr11:120175402-120175419 chr11:120175407-120175420
17	FOSL1	chr11:120175121-120175758	HCT-116	colon:	n/a	chr11:120175461-120175470

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120171583..120174537-chr11:120174642..120177317,2	MCF-7	breast:
3	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:
4	chr11:120174600..120176592-chr11:120196059..120198854,2	K562	blood:
5	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
6	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
7	chr11:120106492..120108262-chr11:120175100..120176692,2	MCF-7	breast:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000181264	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17123835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55816695	1.00[AMR][1000 genomes]
rs73578290	1.00[AMR][1000 genomes]
rs73582234	1.00[AMR][1000 genomes]
rs73582257	1.00[AMR][1000 genomes]
rs73582276	1.00[AMR][1000 genomes]
rs73582290	1.00[AMR][1000 genomes]
rs73584104	1.00[AMR][1000 genomes]
rs7927594	1.00[AMR][1000 genomes]
rs7945341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv522706	chr11:120173845-120178632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120170800-120175800	Weak transcription	A549	lung
3	chr11:120170800-120176200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:120170800-120176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120172000-120177600	Enhancers	Stomach Mucosa	stomach
6	chr11:120172200-120177600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:120172400-120178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120173200-120176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:120173400-120176200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:120173400-120177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:120173800-120175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:120173800-120175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:120173800-120175800	Weak transcription	Gastric	stomach
15	chr11:120173800-120175800	Weak transcription	Pancreas	Pancrea
16	chr11:120173800-120177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:120173800-120177800	Weak transcription	Lung	lung
18	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:120174000-120175800	Weak transcription	Colonic Mucosa	Colon
20	chr11:120174000-120175800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:120174000-120175800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:120174200-120177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:120174400-120176400	Enhancers	GM12878-XiMat	blood
24	chr11:120174600-120178000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:120174600-120178000	Enhancers	HMEC	breast
26	chr11:120174800-120175800	Weak transcription	Esophagus	oesophagus
27	chr11:120174800-120178000	Enhancers	Hela-S3	cervix
28	chr11:120174800-120178200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:120175000-120178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:120175200-120176000	Enhancers	Small Intestine	intestine
31	chr11:120175200-120176400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:120175400-120176000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:120175400-120176000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:120175400-120178000	Enhancers	NH-A	brain
35	chr11:120175400-120178200	Enhancers	NHLF	lung
36	chr11:120175400-120179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:120175600-120175800	Enhancers	NHEK	skin
38	chr11:120175600-120177000	Weak transcription	HSMMtube	muscle

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